Associated Papers
CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.
Yoshizaki Y et al.
Scientific Reports, 2024
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Levy T et al.
Human Genetics, 2023
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Levy T et al.
Human Molecular Genetics, 2022
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Garrity M et al.
Cold Spring Harbor Molecular Case Studies, 2021
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